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Adaptor-related protein complex 3 subunit delta-1 (AP3D1)
- Target
- AP3D1
- Molecular classification
- Other (Vesicle coat/adaptor protein complex component; not a receptor, enzyme, transporter, or classical signaling protein)
01
Overview
Adaptor-related protein complex 3 subunit delta-1 (AP3D1) is a major component of the AP-3 adaptor protein complex, a heterotetramer involved in vesicle formation and trafficking from the Golgi apparatus to lysosomes and lysosome-related organelles. AP3D1 is essential for the biogenesis and proper trafficking of pigment granules, platelet dense granules, and some neurotransmitter vesicles. Mutations in AP3D1 disrupt these processes and cause Hermansky-Pudlak syndrome type 10 (HPS10), characterized by oculocutaneous albinism, bleeding, and sometimes neurological defects. AP3D1 is not classically considered a therapeutic target (e.g., receptor, enzyme, transporter) but is of significant interest in rare genetic diseases, cell biology, and trafficking disorders.
- Other names
- AP-3 complex subunit delta-1Delta-adaptinHPS10ADTDhBLVRPRO0039adapter-related protein complex 3 subunit delta-1adaptor related protein complex 3 delta 1 subunitsubunit of putative vesicle coat adaptor complex AP-3AP-3 complex delta subunitAP3D1
02
Biological functions
Vesicle formation and traffickingBiogenesis of pigment granulesPlatelet dense granule and neurotransmitter vesicle traffickingEndosome to melanosome transportProtein localization to membraneZinc ion import into lysosome
03
Disease associations
Hermansky-Pudlak syndrome 10 (HPS10)Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiencyOther disorders affecting lysosome-related organelles
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